業績

2009年業績
  1. Wu L, Liang D, Niikawa N, Ma F, Sun M, Pan Q, Long Z, Zhou Z, Yoshiura K, Wang H, Sato D, Nishimura G, Dai H, Zhang X, Xia J. A ZRS duplication causes syndactyly type IV with tibial hypoplasia. Am J Med Genet A 149A(4): 816-818, 2009 Feb15.
  2. Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura K, Niikawa N. Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. Am J Med Genet A 149A(4): 785-787, 2009 Feb 15.
  3. Miyazaki K, Mapendano CK, Fuchigami T, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura K, Niikawa N, Kishino T. Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene. Gene 432(1-2): 97-101, 2009 Mar 1.
  4. Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet A 149A(3): 336-342, 2009 Mar.
  5. Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. J Hum Genet 54(5): 304-309, 2009 May.
  6. Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura K, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T. Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type? FASEB J 23(6): 2001-2013, 2009 Jun.
  7. Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N. A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene. BMC Genet 10: 42, 2009 Aug 4.
  8. Machida J, Félix TM, Murray JC, Yoshiura K, Tanemura M, Kamamoto M, Shimozato K, Sonta S, Ono T. Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). Cleft Palate Craniofac J 46(5): 532-540, 2009 Sep.
  9. The Super Science High School Consortium. Japanese map of the earwax gene frequency: a nationwide collaborative study by Super Science High School Consortium. J Hum Genet54(9): 499-503, 2009 Sep.
  10. Kimani JW, Yoshiura K, Shi M, Jugessur A, Moretti-Ferreira D, Christensen K, Murray JC. Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/or Palate. Twin Res Hum Genet 12(5): 462-468, 2009 Oct.